Duchenne muscular dystrophy
著者
書誌事項
Duchenne muscular dystrophy
(Oxford monographs on medical genetics, no. 24)(Oxford medical publications)
Oxford University Press, 1993
2nd ed
大学図書館所蔵 全6件
  青森
  岩手
  宮城
  秋田
  山形
  福島
  茨城
  栃木
  群馬
  埼玉
  千葉
  東京
  神奈川
  新潟
  富山
  石川
  福井
  山梨
  長野
  岐阜
  静岡
  愛知
  三重
  滋賀
  京都
  大阪
  兵庫
  奈良
  和歌山
  鳥取
  島根
  岡山
  広島
  山口
  徳島
  香川
  愛媛
  高知
  福岡
  佐賀
  長崎
  熊本
  大分
  宮崎
  鹿児島
  沖縄
  韓国
  中国
  タイ
  イギリス
  ドイツ
  スイス
  フランス
  ベルギー
  オランダ
  スウェーデン
  ノルウェー
  アメリカ
注記
Includes bibliographical references (p. [310]-379) and index
内容説明・目次
内容説明
This is the second edition of a book which considers Duchenne muscular dystrophy (DMD) in detail and critically evaluates the published literature. The author draws on his clinical experience and scientific knowledge to provide an account of one of the most common inherited diseases. After a brief historical introduction, the author describes the clinical features of the disease in detail, emphasizing the involvement of tissues other than skeletal muscle. The biochemistry, genetics and molecular pathology are discussed in the context of recent research findings, building a picture of the role of dystrophin in the pathogenesis of the disease. Prevention through neonatal screening, carrier detection, genetic counselling and prenatal diagnosis is covered, stressing the importance of DNA markers and gene probes. Finally the book discusses the management of patients with the disease and the possibilities for treatment, which include surgical correction of deformities, new drug treatments, the prospect for myoblast transfer and the possibilities for gene therapy.
目次
- History of the disease
- clinical features
- confirmation of the diagnosis
- differential diagnosis
- involvement of tissues other than skeletal muscle
- biochemistry of Duchenne muscular dystrophy
- pathogenesis
- genetics
- molecular pathology
- prevention
- genetic counselling
- management. Appendices: Duchenne's obituary
- MRC grading of muscle strength
- Swinyard grade
- Vignos grade
- Hammersmith motor ability score
- CIDD group grade
- muscular dystrophy associations and groups in various countries.
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